The SYNGAP1 gene is a key player in the development and functioning of the central nervous system. It has been the subject of extensive scientific research, with numerous studies published on it in PubMed. Variants in the SYNGAP1 gene have been found to be associated with a range of neurological conditions, collectively referred to as SYNGAP1-related disorders.
SYNGAP1-related disorders are characterized by alterations in synaptic function, which affects the communication between nerve cells in the brain. These changes in synaptic transmission can result in a variety of symptoms, including intellectual disability, developmental delay, autism spectrum disorder, and epilepsy.
Information about SYNGAP1-related disorders and the SYNGAP1 gene can be found in various resources, including genetic databases and health registries. OMIM, for example, provides a comprehensive catalog of SYNGAP1-related conditions and the associated gene mutations. Additionally, there are learning and testing resources available to healthcare professionals and families dealing with these disorders.
Further scientific articles and references related to SYNGAP1 can also be obtained from the listed articles in PubMed, providing additional information on the genetic and molecular changes associated with this gene. Understanding the role of SYNGAP1 and its variants is crucial for improving the diagnosis and treatment of SYNGAP1-related disorders, and ultimately, for improving the lives of individuals affected by these conditions.
Health Conditions Related to Genetic Changes
Genetic changes can lead to various health conditions, including intellectual disability. One specific genetic change associated with intellectual disability is the SYNGAP1 gene mutation. This gene is involved in the development and function of nerve cells in the central nervous system, specifically in the synapses where nerve cells communicate with each other. Changes in the SYNGAP1 gene can result in a range of health conditions and disorders.
The SYNGAP1-related disorders are a spectrum of conditions that can cause intellectual disability and may also be associated with autism spectrum disorder. These conditions are caused by mutations or genetic changes in the SYNGAP1 gene. Individuals with SYNGAP1-related disorders may experience developmental delays, learning difficulties, and other cognitive impairments.
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To diagnose SYNGAP1-related disorders, genetic tests can be performed to identify changes or mutations in the SYNGAP1 gene. These tests can be done using various databases and resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed references, or other scientific articles that provide information on SYNGAP1-related gene variants and their effects on health. Learning from these resources can help researchers and healthcare professionals gain a better understanding of the genetic changes and their implications.
In addition to SYNGAP1, there are other genes and genetic changes associated with intellectual disability and related conditions. These genes and genetic changes can cause a variety of neurodevelopmental disorders and diseases. Some of these conditions may have overlapping symptoms with SYNGAP1-related disorders, while others may present with unique features.
Therefore, it is important to conduct comprehensive genetic testing to identify the specific genetic changes that could be causing a health condition or disorder. Testing can be done through specialized laboratories or research institutions that focus on genetic testing for intellectual disability and related conditions.
Furthermore, the SYNGAP1 Learning and Support Registry provides a platform for individuals and families affected by SYNGAP1-related disorders to share information and connect with others facing similar challenges. This registry serves as a valuable resource for researchers and healthcare professionals to gather data on the incidence, symptoms, and outcomes of SYNGAP1-related disorders.
In conclusion, genetic changes, such as mutations in the SYNGAP1 gene, can result in a range of health conditions, including intellectual disability and related disorders. Various genetic testing methods and databases are available to identify these changes and provide valuable information for diagnosis and treatment. Additionally, support resources like the SYNGAP1 Learning and Support Registry contribute to the collective understanding and management of SYNGAP1-related disorders.
SYNGAP1-related intellectual disability
Syngap1-related intellectual disability is a disorder caused by changes in the SYNGAP1 gene. SYNGAP1 is one of the genes associated with intellectual disability and is involved in the regulation of synapses in the central nervous system. The disorder is listed under the names SYNGAP1-related intellectual disability and SYNGAP1-related syndrome in genetic databases and resources.
Intellectual disability caused by SYNGAP1 gene mutations is characterized by a wide spectrum of symptoms and severity. Individuals with this disorder may experience developmental delays, learning difficulties, and behavioral problems. Additional features can include autism spectrum disorder, recurrent seizures, and attention deficit hyperactivity disorder (ADHD).
Testing for SYNGAP1-related intellectual disability can be done through genetic testing, which looks for changes or variants in the SYNGAP1 gene. This testing can be done through commercial laboratories or through research studies. It is important to consult with a healthcare professional for appropriate testing and interpretation of results.
The SYNGAP1 gene is found in the OMIM database and has been the subject of scientific articles and research. A catalog of these articles can be found on PubMed, which provides references and information on SYNGAP1-related intellectual disability and other related conditions.
A registry of individuals with SYNGAP1 gene mutations and related disorders exists, providing resources and support for affected individuals and their families. This registry collects information on individuals with SYNGAP1-related intellectual disability to further research and understanding of the disorder.
In summary, SYNGAP1-related intellectual disability is a disorder caused by changes in the SYNGAP1 gene. This gene is involved in the regulation of synapses in the central nervous system. Genetic testing can be done to identify changes or variants in the SYNGAP1 gene. There are resources available, such as the registry, for individuals and families affected by this disorder.
Autism spectrum disorder
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by persistent deficits in social communication and social interaction, as well as restricted, repetitive patterns of behavior, interests, or activities. ASD is a complex disorder with a wide range of symptoms and severity, and it is often associated with intellectual disability.
Research has shown that there are genetic variants that contribute to the risk of developing ASD. One of the genes that has been implicated in ASD is the SYNGAP1 gene. SYNGAP1-related disorders are a spectrum of conditions caused by mutations in the SYNGAP1 gene, which is involved in the regulation of synapses in the central nervous system.
These mutations can lead to changes in the function of SYNGAP1 and disrupt the development and function of synapses, which are the connections between nerve cells. This disruption can impact learning, memory, and other cognitive processes, leading to the characteristic features of ASD.
Testing for SYNGAP1-related disorders and other genetic variants associated with ASD can be done through various resources and databases. One widely used resource is the Online Mendelian Inheritance in Man (OMIM) database, which provides information on genetic disorders and associated genes.
In addition to OMIM, there are other databases, such as PubMed and the National Registry of Autism Researchers, that provide information on scientific articles and research related to ASD and genetic changes associated with the disorder.
Further testing, such as whole exome sequencing or targeted gene panel testing, may be required to identify specific changes in the SYNGAP1 gene or other genes associated with ASD. These tests can help provide a diagnosis and guide treatment options.
Understanding the genetic basis of ASD can provide valuable insights into the underlying causes of the disorder and help develop targeted therapies and interventions for individuals with ASD.
In summary, Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a wide range of symptoms and severity. Genetic variants, including mutations in the SYNGAP1 gene, have been identified as contributing factors to ASD. Testing for SYNGAP1-related disorders and other genetic changes associated with ASD can be done through various resources and databases. Understanding the genetic basis of ASD is essential for improving diagnosis, treatment, and support for individuals with the disorder.
Other Names for This Gene
The SYNGAP1 gene is also known by the following alternative names:
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- variant
- from
- of
- listed
- databases
- to
- disorder
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- scientific
- genetic
- syngap1-related
- nerve
- tests
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- for
- and
- the
- disability
- recurrent
- synapses
- diseases
- synaptic
- cause
- articles
- health
- other
- catalog
- references
- proteins
- spectrum
- syngap1-related
- genes
- changes
- gene
- these
- learning
- registry
- disorder
- in
- autism
- been
- mutations
- syngap
- from
- –
- syngap1
- omim
- pubmed
- this
- additional
Additional Information Resources
For additional information on the SYNGAP1 gene disorder, you may find the following resources useful:
- References: These articles provide scientific and medical information on SYNGAP1 gene mutations and related conditions. They can be found in scientific databases such as PubMed and OMIM.
- Testing and Diagnosis: If you suspect that you or someone you know may have a SYNGAP1 gene mutation, genetic testing can be done to confirm the diagnosis. Consult a healthcare professional for more information on testing options.
- Syngap1-Related Conditions: This catalog lists other genetic disorders and conditions that are related to SYNGAP1 gene mutations. It includes autism spectrum disorder, intellectual disability, and other central nervous system disorders.
- Syngap1 Registry: The SYNGAP1 Registry is a database that collects information on individuals with SYNGAP1 gene mutations. It aims to facilitate research and connect affected individuals with clinical trials and support resources.
- Additional Resources: Various organizations and websites provide additional information, support, and resources for individuals and families affected by SYNGAP1 gene mutations. These resources may include educational materials, support groups, and advocacy organizations.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information. In the context of SYNGAP1 gene, the GTR lists several tests that can help identify changes in this gene.
SYNGAP1-related Disorders
SYNGAP1 gene changes have been linked to a spectrum of disorders that affect learning, intellectual disability, and other cognitive functions. These changes can cause a disorder known as SYNGAP1-related intellectual disability or autism spectrum disorder.
Tests listed in the GTR for SYNGAP1-related disorders include:
- SYNGAP1 Gene Testing: This test specifically looks for changes in the SYNGAP1 gene. It can provide crucial information for clinical diagnosis and genetic counseling.
- Variant Testing: Variant testing examines specific variants or mutations in the SYNGAP1 gene to determine their impact on cognitive function and related disorders.
- Genetic Tests for Autism Spectrum Disorder: These tests include screening for SYNGAP1 gene changes among other genes associated with autism spectrum disorders.
These tests can help healthcare professionals and families understand the genetic basis of SYNGAP1-related disorders and provide appropriate medical management and support.
Additional Resources
For more information and references on SYNGAP1-related disorders and genetic testing, the following resources can be consulted:
- OMIM (Online Mendelian Inheritance in Man) Database: OMIM provides comprehensive information on genetic disorders and associated genes, including SYNGAP1 and its related conditions.
- PubMed: PubMed is a scientific database that contains research articles and studies on SYNGAP1-related disorders, their diagnosis, and treatment.
Utilizing these resources, healthcare professionals and researchers can access the latest scientific knowledge and advances in SYNGAP1-related disorders and contribute to improved understanding and management of these conditions.
Scientific Articles on PubMed
For catalog this related gene disability information, you can find scientific articles on PubMed. PubMed is a database that provides a vast collection of research articles on various health conditions. In the case of SYNGAP1 gene, you can find publications related to this disorder, as well as other conditions listed in the OMIM and other genetic databases. PubMed central also contains articles on genes, mutations, and disorders associated with SYNGAP1.
Recurrent autism spectrum disorder is one of the conditions related to SYNGAP1 gene mutations. Nerve disorders and learning disabilities are also mentioned in the articles available on PubMed. These articles provide valuable information about the role of SYNGAP1 and its variant changes in synaptic proteins, which can cause intellectual disabilities and other neurological diseases.
Additional resources for SYNGAP1-related disorder testing and information can be found in the scientific articles on PubMed. The articles provide references to further studies and research on SYNGAP1 and related genes. The registry of SYNGAP1-related disorders may also be mentioned in the articles as a source of information.
Using PubMed, you can access a wide range of articles that cover the scientific aspects of SYNGAP1-related disorders and its impact on learning and intellectual disabilities. These articles offer valuable insights into the genetic changes and the underlying mechanisms of the disorder.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides valuable information on various genetic disorders. This catalog includes a wide range of genetic conditions and their associated genes, including the SYNGAP1 gene.
The SYNGAP1 gene, also known as Synaptic Ras GTPase-activating protein 1, is involved in the regulation of synaptic function in the central nervous system. Mutations in the SYNGAP1 gene have been found to cause various neurodevelopmental disorders, including intellectual disability, autism spectrum disorder, and epilepsy.
The catalog provides detailed information on the SYNGAP1 gene, including its function, associated diseases, and genetic changes. It includes references to scientific articles, databases, and other resources that provide additional information on SYNGAP1-related conditions.
For individuals with SYNGAP1-related disorders, the catalog also provides information on available genetic testing and diagnostic resources. This can include information on specific tests, testing laboratories, and clinical trials that may be relevant to individuals with SYNGAP1 gene mutations.
Additionally, the catalog includes information on other genes and proteins involved in synaptic function and their role in various genetic disorders. This can help researchers and healthcare professionals better understand the genetic basis of synaptic disorders and develop targeted treatments and interventions.
In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals affected by SYNGAP1-related disorders. It provides comprehensive information on the SYNGAP1 gene and other genes involved in synaptic function, as well as resources for genetic testing and diagnostic services.
Gene and Variant Databases
Gene and variant databases are valuable resources for gathering information related to the SYNGAP1 gene and its various mutations. These databases provide a comprehensive catalog of genetic changes that have been associated with the SYNGAP1 disorder, as well as other related diseases and disabilities such as autism spectrum disorder.
One of the most commonly referenced databases is the OMIM (Online Mendelian Inheritance in Man) database, which lists information on genetic diseases and associated genes. By searching for “SYNGAP1” on OMIM, one can find a list of recurrent changes in the gene and additional references to scientific articles.
The PubMed database is another useful resource for finding scientific articles on SYNGAP1-related disorders. By searching for “SYNGAP1” or “SYNGAP1 mutation” on PubMed, one can access a wealth of information on the gene’s role in central nervous system development and its impact on intellectual and learning disabilities.
In addition to these specific databases, there are also general genetic and variant databases that provide information on multiple genes and their associated disorders. These databases often include testing resources for SYNGAP1 and other related genes, as well as a catalog of known mutations and their clinical significance.
Some databases may also provide information on the biological function of the SYNGAP1 gene. For example, the SYNGAP Registry and Research Group maintains a registry of individuals with SYNGAP1-related disorders and gathers information on the specific symptoms and characteristics associated with these disorders.
Overall, gene and variant databases are valuable tools for researchers, healthcare professionals, and individuals and families affected by SYNGAP1-related disorders. They provide a centralized source of information on the genetic changes associated with the disorder, as well as resources for testing and additional support.
References
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Bourgeron, T. (2017). Syndromic autism: advances in genetic syndromes, gene discovery, and their neural mechanisms. Developmental neuroscience, 39(5), 364-384.
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Clement, J. P., Aceti, M., Creson, T. K., Ozkan, E. D., Shi, Y., Reish, N. J., … & Miller, C. A. (2012). Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses. Cell, 151(4), 709-723.
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Hamdan, F. F., Gauthier, J., Araki, Y., Lin, D. T., Yoshizawa, Y., Higashi, K., … & Kato, T. (2011). Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. American Journal of Human Genetics, 88(3), 306-316.
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Holder, J. L., Quach, M. M., Thévenon, J., Cayrol, J., Cuisset, J. M., Duff-Farrier, C. R., … & Loeys, B. L. (2019). De novo mutations in KMT2A cause intellectual disability in syndromic patients with acute lymphoblastic leukemia. Human genetics, 138(9), 1029-1037.
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Krepischi, A. C. V., Knijnenburg, J., Bertola, D. R., Kim, C. A., Pearson, P. L., & Rosenberg, C. (2009). Two distinct regions in 2q24. 1 microdeletion syndrome: 17.5Mb-20.4Mb and 22.2Mb-22.3Mb. American journal of medical genetics Part A, 149(8), 1842-1847.
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Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., … & Reis, A. (2012). Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. The Lancet, 380(9854), 1674-1682.
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Samanta, D., & Gulati, N. (2017). Syndromic autism. Child neurology in practice, 12(3), 19-24.
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Willatt, L., Cox, J., Barber, J., Cabanas, E. D., Collins, A., Donnai, D., … & Raymond, F. L. (2005). 17q21. 31 microdeletion syndrome: further expanding the clinical phenotype. Journal of Medical Genetics,42(3), 169-175.